What Is Hajdu-Cheney Syndrome?

Hajdu-Cheney Syndrome is a rare connective tissue disorder. Connective tissue is strong fibrous tissue that supports and joins other body tissues and parts. Abnormal development of bones, joints, and teeth also occurs. A decrease in bone mass and changes in the skull and jawbone are also features of this syndrome.

An osteolytic syndrome with skull deformities, characteristics facies, osteoporosis, premature loss of teeth, joint laxity, short stature, dissolution of the terminal phalanges, hearing loss, and a hoarse voice. Most patients have a normal mental development but some are mildly retarded.

Club foot, acro-osteolysis with short distal portions of fingers and toes and broad stubby fingers, narrowing of metacarpophalangeal and metatarsophalangeal spaces, osetolysis of radius, and hyperflexible interphalangeal joints.